Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.C20R

SLC19A3

230 papers

RefSeq Summary

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a reces...

Pfam Domains

Folate_carrieraa 10–441UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 3

HGNC Alias Symbols

THTR2; thTr-2; hTHTR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025243.4
p.C20R
c.58T>C
Surrounding Variants
1 paper
NM_025243.4
p.C20S
c.58T>A
1 paper
NM_025243.4
p.C20S
c.59G>C
1 paper
NM_025243.4
p.L19P
c.56T>C
1 paper
NM_025243.4
p.L21delFs
c.63delT
1 paper
NM_025243.4
p.G23C
c.67G>T
36 papers
NM_025243.4
p.G23V
c.68G>T
1 paper
NM_025243.4
p.G23D
c.68G>A
1 paper
NM_025243.4
p.P15L
c.44C>T
1 paper
NM_025243.4
p.F25S
c.74T>C
25 papers
NM_025243.4
p.F25insFs
c.74dupT
6 papers
NM_025243.4
p.S26fs
c.76_77fs
2 papers
NM_025243.4
p.S26fs
c.76_77fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."